Incidental Mutation 'IGL00903:Ctsll3'
ID28828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsll3
Ensembl Gene ENSMUSG00000056728
Gene Namecathepsin L-like 3
Synonyms2310051M13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00903
Quality Score
Status
Chromosome13
Chromosomal Location60798250-60802849 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 60800261 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 201 (V201L)
Ref Sequence ENSEMBL: ENSMUSP00000036801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043754]
Predicted Effect probably benign
Transcript: ENSMUST00000043754
AA Change: V201L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000036801
Gene: ENSMUSG00000056728
AA Change: V201L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Inhibitor_I29 29 88 1.25e-20 SMART
Pept_C1 115 330 1.89e-127 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223578
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500012F01Rik G T 2: 167,065,486 probably benign Het
Arsk A G 13: 76,098,368 probably null Het
As3mt A G 19: 46,712,234 I159V probably benign Het
Dapk1 T C 13: 60,761,397 Y1275H probably damaging Het
Erap1 G A 13: 74,673,707 R727H probably benign Het
Fam173b T C 15: 31,606,115 V73A possibly damaging Het
Fcrl6 T A 1: 172,599,107 T91S probably benign Het
Gvin1 T C 7: 106,158,170 E2364G probably benign Het
Hacd3 T C 9: 65,004,253 probably benign Het
Hcls1 T A 16: 36,956,021 probably null Het
Igf2r C T 17: 12,683,867 R2432H possibly damaging Het
Kif27 C A 13: 58,344,672 V218F possibly damaging Het
Klhl20 T C 1: 161,090,506 Y70C probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lcn12 G T 2: 25,493,320 N15K possibly damaging Het
Mrgpra1 T C 7: 47,335,578 M118V probably benign Het
Nacad G T 11: 6,600,632 T853K probably damaging Het
Nos3 A T 5: 24,369,862 Q293L probably damaging Het
Prkca C T 11: 107,983,974 V381M probably damaging Het
Ptcd3 A G 6: 71,907,844 F37S possibly damaging Het
Ptgs2 A G 1: 150,104,424 Y371C probably damaging Het
Pygl T C 12: 70,207,742 Y143C probably damaging Het
Samhd1 A G 2: 157,107,423 probably benign Het
Scube1 T A 15: 83,703,501 H89L probably damaging Het
Tmem59l G A 8: 70,485,665 probably benign Het
Vmn2r108 A G 17: 20,462,512 V810A probably damaging Het
Vmn2r61 T G 7: 42,300,511 F785C probably damaging Het
Other mutations in Ctsll3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Ctsll3 APN 13 60798942 missense probably benign 0.03
IGL01341:Ctsll3 APN 13 60798999 missense probably benign 0.00
IGL01464:Ctsll3 APN 13 60800320 missense probably damaging 1.00
IGL02087:Ctsll3 APN 13 60799609 missense possibly damaging 0.56
indolent UTSW 13 60798907 critical splice donor site probably null
R0145:Ctsll3 UTSW 13 60798595 missense probably damaging 1.00
R0427:Ctsll3 UTSW 13 60801391 missense probably benign 0.18
R1463:Ctsll3 UTSW 13 60801275 splice site probably benign
R1551:Ctsll3 UTSW 13 60801007 nonsense probably null
R1695:Ctsll3 UTSW 13 60800977 missense probably damaging 1.00
R1969:Ctsll3 UTSW 13 60800348 missense probably benign 0.00
R2168:Ctsll3 UTSW 13 60800935 missense possibly damaging 0.85
R4662:Ctsll3 UTSW 13 60799602 missense possibly damaging 0.68
R4783:Ctsll3 UTSW 13 60800395 missense probably damaging 1.00
R5327:Ctsll3 UTSW 13 60798907 critical splice donor site probably null
R5547:Ctsll3 UTSW 13 60800737 missense probably benign 0.01
R5743:Ctsll3 UTSW 13 60801001 missense probably benign 0.01
R5937:Ctsll3 UTSW 13 60799596 missense probably damaging 1.00
R6414:Ctsll3 UTSW 13 60800299 missense probably damaging 1.00
X0065:Ctsll3 UTSW 13 60801284 splice site probably null
Posted On2013-04-17